Variant report

Variant	rs116239758
Chromosome Location	chr1:211499911-211499912
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:148)
CpG islands
(count:0)
Chromatin interactive
region (count:3)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:148 , 50 per page) page: 1 2 3

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MAX	chr1:211499648-211500778	Hela-S3	cervix:	n/a	n/a
2	CCNT2	chr1:211499899-211500485	K562	blood:	n/a	n/a
3	MAZ	chr1:211499762-211501280	K562	blood:	n/a	chr1:211501187-211501197
4	POLR2A	chr1:211499364-211502137	GM12892	blood:	n/a	n/a
5	MTA3	chr1:211499362-211500172	GM12878	blood:	n/a	n/a
6	POLR2A	chr1:211499701-211500440	PFSK-1	brain:	n/a	n/a
7	E2F6	chr1:211499823-211500599	K562	blood:	n/a	n/a
8	POLR2A	chr1:211499683-211500312	GM12891	blood:	n/a	n/a
9	POLR2A	chr1:211499627-211501668	GM12878	blood:	n/a	n/a
10	MAZ	chr1:211499643-211500683	Hela-S3	cervix:	n/a	n/a
11	USF1	chr1:211499824-211500462	H1-hESC	embryonic stem cell:	n/a	n/a
12	MAFF	chr1:211499841-211499971	K562	blood:	n/a	n/a
13	BHLHE40	chr1:211499587-211501280	K562	blood:	n/a	n/a
14	E2F6	chr1:211499687-211500666	K562	blood:	n/a	n/a
15	RCOR1	chr1:211499598-211501242	K562	blood:	n/a	n/a
16	BHLHE40	chr1:211499756-211500102	A549	lung:	n/a	n/a
17	RUNX3	chr1:211499742-211500121	GM12878	blood:	n/a	n/a
18	E2F1	chr1:211499848-211500652	Hela-S3	cervix:	n/a	n/a
19	POLR2A	chr1:211499904-211500281	ProgFib	skin:	n/a	n/a
20	MAX	chr1:211499736-211500680	HepG2	liver:	n/a	n/a
21	TBL1XR1	chr1:211499903-211499966	K562	blood:	n/a	n/a
22	RUNX3	chr1:211499545-211501322	GM12878	blood:	n/a	n/a
23	E2F6	chr1:211499859-211500461	H1-hESC	embryonic stem cell:	n/a	n/a
24	REST	chr1:211499721-211500084	A549	lung:	n/a	n/a
25	MAX	chr1:211499853-211500406	K562	blood:	n/a	n/a
26	POLR2A	chr1:211499764-211500059	GM12891	blood:	n/a	n/a
27	MAX	chr1:211499608-211500786	K562	blood:	n/a	n/a
28	SMC3	chr1:211499712-211499912	K562	blood:	n/a	n/a
29	MAX	chr1:211499785-211500356	A549	lung:	n/a	n/a
30	POLR2A	chr1:211499580-211500401	Raji	blood:	n/a	n/a
31	POLR2A	chr1:211499905-211500313	A549	lung:	n/a	n/a
32	BHLHE40	chr1:211499770-211500243	HepG2	liver:	n/a	n/a
33	RCOR1	chr1:211499739-211500003	K562	blood:	n/a	n/a
34	ZNF263	chr1:211499571-211501204	HEK293-T-REx	kidney:	n/a	n/a
35	MYC	chr1:211499805-211500400	K562	blood:	n/a	n/a
36	POLR2A	chr1:211499601-211501246	H1-hESC	embryonic stem cell:	n/a	n/a
37	IRF1	chr1:211499871-211500525	K562	blood:	n/a	chr1:211500325-211500338 chr1:211500325-211500338 chr1:211500325-211500338 chr1:211500326-211500339 chr1:211500323-211500337 chr1:211500328-211500339 chr1:211500327-211500338 chr1:211500324-211500338 chr1:211500325-211500338
38	TBP	chr1:211499807-211500346	K562	blood:	n/a	n/a
39	MAX	chr1:211499701-211500410	MCF-7	breast:	n/a	n/a
40	POLR2A	chr1:211499883-211500321	A549	lung:	n/a	n/a
41	MAX	chr1:211499748-211500441	K562	blood:	n/a	n/a
42	EP300	chr1:211499818-211500100	GM12878	blood:	n/a	n/a
43	MAX	chr1:211499775-211500390	NB4	blood:	n/a	n/a
44	POLR2A	chr1:211499730-211500456	HUVEC	blood vessel:	n/a	n/a
45	CUX1	chr1:211499686-211499919	K562	blood:	n/a	n/a
46	POLR2A	chr1:211499743-211500400	Hela-S3	cervix:	n/a	n/a
47	NRF1	chr1:211499798-211500108	GM12878	blood:	n/a	n/a
48	MAX	chr1:211499732-211500465	H1-hESC	embryonic stem cell:	n/a	n/a
49	POLR2A	chr1:211499559-211501436	GM18505	blood:	n/a	n/a
50	POLR2A	chr1:211499739-211500728	GM12878	blood:	n/a	n/a

No data

(count:3 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:211499136..211502907-chr1:211554932..211557555,4	K562	blood:
2	chr1:211429664..211435180-chr1:211498779..211503937,6	K562	blood:
3	chr1:211429664..211434083-chr1:211498779..211503937,6	K562	blood:

No data

Variant related genes	Relation type
TRAF5	TF binding region
ENSG00000153363	Chromatin interaction
ENSG00000117625	Chromatin interaction

Extended variants
information (count: 2 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3374121	chr1:211499154-211501702	Flanking Active TSS Weak transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
2	esv3347623	chr1:211499429-211501377	Active TSS Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:211486400-211500200	Weak transcription	Small Intestine	intestine
2	chr1:211487200-211500200	Weak transcription	Spleen	Spleen
3	chr1:211499000-211500000	Flanking Active TSS	GM12878-XiMat	blood
4	chr1:211499200-211500000	Flanking Active TSS	Stomach Smooth Muscle	stomach
5	chr1:211499600-211500000	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
6	chr1:211499600-211500000	Flanking Bivalent TSS/Enh	H9 Cell Line	embryonic stem cell
7	chr1:211499600-211500000	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
8	chr1:211499600-211500000	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr1:211499600-211500000	Flanking Bivalent TSS/Enh	iPS-15b Cell Line	embryonic stem cell
10	chr1:211499600-211500000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr1:211499600-211500000	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
12	chr1:211499600-211500000	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
13	chr1:211499600-211500000	Flanking Bivalent TSS/Enh	Primary neutrophils fromperipheralblood	blood
14	chr1:211499600-211500000	Flanking Active TSS	Primary B cells from cord blood	blood
15	chr1:211499600-211500000	Flanking Active TSS	Primary B cells from peripheral blood	blood
16	chr1:211499600-211500000	Flanking Active TSS	Primary T cells fromperipheralblood	blood
17	chr1:211499600-211500000	Flanking Active TSS	Primary hematopoietic stem cells	blood
18	chr1:211499600-211500000	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
19	chr1:211499600-211500000	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
20	chr1:211499600-211500000	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
21	chr1:211499600-211500000	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
22	chr1:211499600-211500000	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
23	chr1:211499600-211500000	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
24	chr1:211499600-211500000	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
25	chr1:211499600-211500000	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
26	chr1:211499600-211500000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr1:211499600-211500000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr1:211499600-211500000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr1:211499600-211500000	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
30	chr1:211499600-211500000	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
31	chr1:211499600-211500000	Flanking Active TSS	Adipose Nuclei	Adipose
32	chr1:211499600-211500000	Flanking Active TSS	Liver	Liver
33	chr1:211499600-211500000	Flanking Active TSS	Brain Angular Gyrus	brain
34	chr1:211499600-211500000	Flanking Active TSS	Brain Anterior Caudate	brain
35	chr1:211499600-211500000	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
36	chr1:211499600-211500000	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
37	chr1:211499600-211500000	Flanking Active TSS	Colonic Mucosa	Colon
38	chr1:211499600-211500000	Flanking Active TSS	Duodenum Mucosa	Duodenum
39	chr1:211499600-211500000	Active TSS	Fetal Heart	heart
40	chr1:211499600-211500000	Flanking Active TSS	Fetal Intestine Large	intestine
41	chr1:211499600-211500000	Flanking Active TSS	Fetal Intestine Small	intestine
42	chr1:211499600-211500000	Flanking Active TSS	Fetal Kidney	kidney
43	chr1:211499600-211500000	Flanking Active TSS	Fetal Muscle Trunk	muscle
44	chr1:211499600-211500000	Flanking Active TSS	Fetal Muscle Leg	muscle
45	chr1:211499600-211500000	Flanking Active TSS	Fetal Thymus	thymus
46	chr1:211499600-211500000	Flanking Active TSS	Left Ventricle	heart
47	chr1:211499600-211500000	Flanking Active TSS	Lung	lung
48	chr1:211499600-211500000	Flanking Active TSS	Pancreas	Pancrea
49	chr1:211499600-211500000	Flanking Active TSS	Psoas Muscle	Psoas
50	chr1:211499600-211500000	Flanking Active TSS	Rectal Mucosa Donor 29	rectum

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links